Code System Concept

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Code System Concept

Code System Concept Code	763066009
Code System Concept Name	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
Code System Preferred Concept Name	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3637753015	Houlston Ironton Temple syndrome	Active	Synonym	false	false
3637756011	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital abnormality of atrium (disorder) {788533006 , SNOMED-CT } Congenital abnormality of cardiac connection (disorder) {253272009 , SNOMED-CT } Congenital abnormality of cardiac ventricle (disorder) {773139006 , SNOMED-CT } Congenital anomaly of anus (disorder) {11194003 , SNOMED-CT } Congenital anomaly of atrioventricular septum (disorder) {737156006 , SNOMED-CT } Congenital anomaly of cardiac chamber (disorder) {15964981000119104 , SNOMED-CT } Congenital anomaly of upper limb (disorder) {66510004 , SNOMED-CT } Congenital atrioventricular septal defect (disorder) {1237074000 , SNOMED-CT } Congenital blepharophimosis (disorder) {93040009 , SNOMED-CT } Congenital septal defect of heart (disorder) {59494005 , SNOMED-CT } Congenital structural abnormality of eyelid (disorder) {91158006 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , SNOMED-CT } Narrowing of palpebral fissure (disorder) {370116005 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,